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Abstract Details

Movement Disorders in Autosomal Dominant Spinocerebellar Ataxias: A Prospective Multicenter NIH Cohort Study
Movement Disorders
S43 - (-)
001
SCA's are a genetically, clinically, and pathologically heterogeneous group of neurodegenerative disorders that typically involve cerebellar and extra-cerebellar structures. Various movement disorders (MD's) occur with some frequency in the SCA's and their characterization and treatment can impact outcome.
We prospectively collected data on patients with SCA 1, 2, 3 and 6 from 12 centers in the US (Clinical Research Consortium for Spinocerebellar Ataxias /CRC-SCA). Patient characteristics, neurological rating (SARA), and functional status were assessed. Prevalence of dystonia, chorea, rigidity, postural tremor, rest tremor, and myoclonus and potential factors contributing to them were analyzed. The size of the responsible CAG repeat in the expanded allele was determined.
A total of 301 patients, including 52 SCA 1, 64 SCA 2, 117 SCA 3, and 68 SCA 6 patients were examined. Forty % (119) had one or more SCA associated MD's (rigidity, tremor, myoclonus, chorea, dystonia). Postural tremor was the most frequent MD (2 to 31% of different SCA's) followed by rigidity and dystonia. A combination of rigidity and tremor was observed in SCA 2, SCA 3 and SCA 6 (6 to 12% of the cases) but not in SCA 1. Chorea was most frequent in SCA 2 and dystonia, in SCA 2 and 3. MD's were in general associated with more severe disease measures; and in SCA 3 age at onset, disease duration and repeat size.
Movement disorders are quite prevalent in SCA's; postural tremor was most frequent followed by dystonia and rigidity. They often occur with more severe disease and may contribute to disability. Their recognition may facilitate genotypic diagnosis and allow symptomatic therapy. Factors determining their presence need better definition.
Authors/Disclosures

PRESENTER 		No disclosure on file
Michael S. Okun, MD, FAAN (University of Florida) Dr. Okun has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for NIH. Dr. Okun has received personal compensation in the range of $10,000-$49,999 for serving as an officer or member of the Board of Directors for Parkinson's Foundation. Dr. Okun has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for JAMA Neurology. Dr. Okun has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for NEJM Journal Watch. The institution of Dr. Okun has received research support from NIH. The institution of Dr. Okun has received research support from Parkinson's Foundation. The institution of Dr. Okun has received research support from Tourette Association of America. The institution of Dr. Okun has received research support from Michael J Fox. Dr. Okun has received publishing royalties from a publication relating to health care.
Christopher G. Favilla, MD (University of Pennsylvania) The institution of Dr. Favilla has received research support from National Institutes of Health. The institution of Dr. Favilla has received research support from American Heart Association. The institution of Dr. Favilla has received research support from OpenWater, Inc..
Karla P. Figueroa (University of Utah) Ms. Figueroa has nothing to disclose.
Stefan M. Pulst, MD, FAAN (University of Utah) Dr. Pulst has received personal compensation in the range of $500-$4,999 for serving as a Consultant for venrock. Dr. Pulst has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Arrowhead. Dr. Pulst has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Leverna. Dr. Pulst has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for AAN. Dr. Pulst has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Leninthal LLC. The institution of Dr. Pulst has received research support from NINDS. Dr. Pulst has received intellectual property interests from a discovery or technology relating to health care.
Susan L. Perlman, MD (UCLA) Dr. Perlman has nothing to disclose.
George R. Wilmot, MD, PhD (Emory University Dept of Neurology) Dr. Wilmot has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Larimar Therapeutics. The institution of Dr. Wilmot has received research support from Friedrich Ataxia Research Alliance. The institution of Dr. Wilmot has received research support from National Ataxia Foundation. The institution of Dr. Wilmot has received research support from NIH. The institution of Dr. Wilmot has received research support from Reata. The institution of Dr. Wilmot has received research support from Biohaven Pharmaceuticals.
Csilla Csoboth No disclosure on file
Christopher Gomez, MD, PhD (University of Chicago) Dr. Gomez has nothing to disclose.
Jeremy D. Schmahmann, MD, FAAN (Massachusettes General Hospital) Dr. Schmahmann has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Biohaven. The institution of Dr. Schmahmann has received research support from National Ataxia Foundation. The institution of Dr. Schmahmann has received research support from Biohaven. Dr. Schmahmann has received intellectual property interests from a discovery or technology relating to health care. Dr. Schmahmann has received publishing royalties from a publication relating to health care. Dr. Schmahmann has received publishing royalties from a publication relating to health care. Dr. Schmahmann has received publishing royalties from a publication relating to health care.
Sarah H. Ying, MD (MEEI) Dr. Ying has nothing to disclose.
Henry L. Paulson, MD, PhD, FAAN (University of Michigan) Dr. Paulson has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Exicure. The institution of Dr. Paulson has received research support from National Institutes of Health. Dr. Paulson has a non-compensated relationship as a Member, Nominating committee with American Neurological Association that is relevant to AAN interests or activities.
Vikram Shakkottai, MD, PhD (University of Texas Southwestern Medical Center) The institution of Dr. Shakkottai has received research support from National Institutes of Health. Dr. Shakkottai has received publishing royalties from a publication relating to health care.
No disclosure on file
Theresa A. Zesiewicz, MD (University of South Florida) Dr. Zesiewicz has received personal compensation for serving as an employee of Medscape. Dr. Zesiewicz has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Lexeo. Dr. Zesiewicz has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Steminent. Dr. Zesiewicz has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Larimar. Dr. Zesiewicz has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biohaven. Dr. Zesiewicz has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Zesiewicz has received intellectual property interests from a discovery or technology relating to health care. Dr. Zesiewicz has received intellectual property interests from a discovery or technology relating to health care. Dr. Zesiewicz has received intellectual property interests from a discovery or technology relating to health care.
Sheng-Han Kuo, MD, FAAN (Columbia University) Dr. Kuo has nothing to disclose.
No disclosure on file
Guangbin Xia, MD, PhD No disclosure on file
Tetsuo Ashizawa, MD, FAAN (Methodist Hospital Research Institute) An immediate family member of Dr. Ashizawa has received personal compensation for serving as an employee of Biopath Holdings. The institution of Dr. Ashizawa has received personal compensation in the range of $500-$4,999 for serving as a Consultant for UniQure. The institution of Dr. Ashizawa has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Cadence. Dr. Ashizawa has received personal compensation in the range of $0-$499 for serving as a Consultant for Astellas. The institution of Dr. Ashizawa has received research support from NIH. The institution of Dr. Ashizawa has received research support from National Ataxia Foundation. The institution of Dr. Ashizawa has received research support from Myotonic Dystrophy Foundation. The institution of Dr. Ashizawa has received research support from Biogen.
S H. Subramony, MBBS, FAAN (University of Florida) Dr. Subramony has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Avidity. Dr. Subramony has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Dyne. Dr. Subramony has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Lupin. Dr. Subramony has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Fallonmedica. Dr. Subramony has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Dr. Subramony has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Amicus. Dr. Subramony has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Fulcrum. The institution of Dr. Subramony has received research support from Reata. The institution of Dr. Subramony has received research support from Retrotope. The institution of Dr. Subramony has received research support from Acceleron. The institution of Dr. Subramony has received research support from Biohaven. The institution of Dr. Subramony has received research support from Pharnext. The institution of Dr. Subramony has received research support from Fulcrum. The institution of Dr. Subramony has received research support from National Ataxia Foundation. The institution of Dr. Subramony has received research support from Friedreich Ataxia Research Alliance. The institution of Dr. Subramony has received research support from Muscular Dystrophy Association. The institution of Dr. Subramony has received research support from Univ of Rochester, MDA. The institution of Dr. Subramony has received research support from Virginia Commonwealth Univ (FDA, Wyck Foundation)). The institution of Dr. Subramony has received research support from Children's Hospital, Philadelphia (FDA). The institution of Dr. Subramony has received research support from Houston Methodist (NIH). The institution of Dr. Subramony has received research support from NIHR01 AR076060-01A1 . The institution of Dr. Subramony has received research support from NIH2R42HD089804-04 . The institution of Dr. Subramony has received research support from NIH R01 AR056973 . The institution of Dr. Subramony has received research support from FSHD Society. The institution of Dr. Subramony has received research support from AAVANTI BIO. The institution of Dr. Subramony has received research support from COHAV FL State Dept of Health. The institution of Dr. Subramony has received research support from Avidity. The institution of Dr. Subramony has received research support from PTC. The institution of Dr. Subramony has received research support from Biohaven. The institution of Dr. Subramony has received research support from Fulcrum. The institution of Dr. Subramony has received research support from Vertex. The institution of Dr. Subramony has received research support from Arthrex.